Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.Y467C

SPPL2A

67 papers

RefSeq Summary

This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a m...

Pfam Domains

PAaa 60–148UCSCPA domain
Peptidase_A22Baa 210–496UCSCSignal peptide peptidase

Gene Aliases

HGNC Name

signal peptide peptidase like 2A

HGNC Alias Symbol

PSL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032802.4
p.Y467C
c.1400A>G
Surrounding Variants
1 paper
NM_032802.4
p.P463_A464del0
c.1387_1392del6
1 paper
NM_032802.4
p.Q462_P463delFs
c.1386_1387delGT
3 papers
NM_032802.4
p.T475S
c.1423A>T
3 papers
NM_032802.4
p.T475S
c.1424C>G
7 papers
NM_032802.4
p.A443Splc
c.1328-1G>A
1 paper
NM_032802.4
p.A443Splc
c.1327+1G>A
1 paper
NM_032802.4
p.D427E
c.1281T>G
1 paper
NM_032802.4
p.D427E
c.1281T>A
1 paper
NM_032802.4
p.R425I
c.1274G>T
2 papers
NM_032802.4
p.D412A
c.1235A>C
1 paper
NM_032802.4
p.M398I
c.1194G>T
1 paper
NM_032802.4
p.M398I
c.1194G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."